Linked Data
ClinVar Variation Id:
293292
ClinVar RCV Id:
RCV000380848
dbSNP Id:
rs6413453
ExAC:
1:161192316 G / A
gnomAD v2:
1-161192316-G-A
gnomAD v3:
1-161222526-G-A
gnomAD v4:
1-161222526-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161222526G>A , CM000663.2:g.161222526G>A | GRCh38 |
| NC_000001.10:g.161192316G>A , CM000663.1:g.161192316G>A | GRCh37 |
| NC_000001.9:g.159458940G>A | NCBI36 |
| NG_012043.1:g.6103C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367990.7:c.186-4C>T MANE Select | ENSP00000356969.3:n.186-4C>T | |
| ENST00000463273.5:c.186-4C>T | ENSP00000476740.1:n.186-4C>T | |
| ENST00000463812.1:c.42-4C>T | ENSP00000476890.1:n.42-4C>T | |
| ENST00000464492.5:c.285-4C>T | ENSP00000476911.1:n.285-4C>T | |
| ENST00000468465.5:c.42-4C>T | ENSP00000476662.1:n.42-4C>T | |
| ENST00000469730.2:c.186-4C>T | ENSP00000476605.1:n.186-4C>T | |
| ENST00000470459.6:c.186-4C>T | ENSP00000477031.1:n.186-4C>T | |
| ENST00000481413.1:n.697-4C>T | ||
| ENST00000481511.5:c.*183-4C>T | ENSP00000477054.1:n.*183-4C>T | |
| ENST00000491350.1:c.53-4C>T | ENSP00000477353.1:n.53-4C>T | |
| NM_001643.1:c.186-4C>T | NP_001634.1:n.186-4C>T | |
| NM_001643.2:c.186-4C>T MANE Select | NP_001634.1:n.186-4C>T |